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  Search Results: 3 unique variants retrieved



  c.6463A>G
p.(Lys2155Glu) (Legacy AA No.2136)
Variant Type:
Point
Domain:
C1
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6464_6465delAA
p.(Lys2155Thrfs*5) (Legacy AA No.2136)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 23

Individual Case Information : Show


  c.6465delA
p.(Lys2155Asnfs*31) (Legacy AA No.2136)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 23

Individual Case Information : Show